R
Rosanna Weksberg
Researcher at University of Toronto
Publications - 259
Citations - 20864
Rosanna Weksberg is an academic researcher from University of Toronto. The author has contributed to research in topics: DNA methylation & Genomic imprinting. The author has an hindex of 68, co-authored 239 publications receiving 18397 citations. Previous affiliations of Rosanna Weksberg include University of British Columbia & Hospital for Sick Children.
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Journal ArticleDOI
Structural variation of chromosomes in autism spectrum disorder.
Christian R. Marshall,Abdul Noor,John B. Vincent,Anath C. Lionel,Lars Feuk,Jennifer Skaug,Mary Shago,Rainald Moessner,Dalila Pinto,Yan Ren,Bhooma Thiruvahindrapduram,Andreas Fiebig,Stefan Schreiber,Jan M. Friedman,Cees E.J. Ketelaars,Yvonne J. Vos,Can Ficicioglu,Susan J. Kirkpatrick,Rob Nicolson,Leon Sloman,Anne Summers,Clare A. Gibbons,Ahmad S. Teebi,David Chitayat,Rosanna Weksberg,Ann Thompson,Cathy Vardy,Vicki Crosbie,Sandra Luscombe,Rebecca Baatjes,Lonnie Zwaigenbaum,Wendy Roberts,Bridget A. Fernandez,Peter Szatmari,Stephen W. Scherer +34 more
TL;DR: The results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility.
Journal ArticleDOI
Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray
Yi-an Chen,Mathieu Lemire,Sanaa Choufani,Darci T. Butcher,Daria Grafodatskaya,Brent W. Zanke,Steven Gallinger,Thomas J. Hudson,Rosanna Weksberg +8 more
TL;DR: 6% of the array probes can potentially generate spurious signals because of co-hybridization to alternate genomic sequences highly homologous to the intended targets, which could lead investigators to mistakenly infer the existence of significant autosomal sex-associated methylation.
Journal ArticleDOI
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Ryan K. C. Yuen,Daniele Merico,Matt Bookman,Jennifer L. Howe,Bhooma Thiruvahindrapuram,Rohan V. Patel,Joe Whitney,Nicole A. Deflaux,Jonathan Bingham,Zhuozhi Wang,Giovanna Pellecchia,Janet A. Buchanan,Susan Walker,Christian R. Marshall,Mohammed Uddin,Mehdi Zarrei,Eric Deneault,Lia D’Abate,Lia D’Abate,Ada J.S. Chan,Ada J.S. Chan,Stephanie Koyanagi,Tara Paton,Sergio L. Pereira,Ny Hoang,Worrawat Engchuan,Edward J Higginbotham,Karen Ho,Sylvia Lamoureux,Weili Li,Jeffrey R. MacDonald,Thomas Nalpathamkalam,Wilson W L Sung,Fiona Tsoi,John Wei,Lizhen Xu,Anne Marie Tassé,Emily Kirby,William Van Etten,Simon N. Twigger,Wendy Roberts,Irene Drmic,Sanne Jilderda,Bonnie Mackinnon Modi,Barbara Kellam,Michael J. Szego,Michael J. Szego,Cheryl Cytrynbaum,Rosanna Weksberg,Lonnie Zwaigenbaum,Marc Woodbury-Smith,Marc Woodbury-Smith,Jessica Brian,Lili Senman,Alana Iaboni,Krissy A.R. Doyle-Thomas,Ann Thompson,Christina Chrysler,Jonathan Leef,Tal Savion-Lemieux,Isabel M. Smith,Xudong Liu,Rob Nicolson,Vicki Seifer,Angie Fedele,Edwin H. Cook,Stephen R. Dager,Annette Estes,Louise Gallagher,Beth A. Malow,Jeremy R. Parr,Sarah J. Spence,Jacob A. S. Vorstman,Brendan J. Frey,James T. Robinson,Lisa J. Strug,Lisa J. Strug,Bridget A. Fernandez,Mayada Elsabbagh,Melissa T. Carter,Joachim Hallmayer,Bartha Maria Knoppers,Evdokia Anagnostou,Peter Szatmari,Peter Szatmari,Robert H. Ring,David Glazer,Mathew T. Pletcher,Stephen W. Scherer,Stephen W. Scherer +89 more
TL;DR: Se sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal that identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability.
Journal ArticleDOI
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Jean Baptiste Rivière,Ghayda M. Mirzaa,Brian J. O'Roak,Margaret Beddaoui,Diana Alcantara,Robert L. Conway,Judith St-Onge,Jeremy Schwartzentruber,Karen W. Gripp,Sarah M. Nikkel,Thea Worthylake,Christopher T. Sullivan,Thomas R. Ward,Hailly Butler,Nancy Kramer,Beate Albrecht,Christine M. Armour,Linlea Armstrong,Oana Caluseriu,Cheryl Cytrynbaum,Beth A. Drolet,A. Micheil Innes,Julie Lauzon,Angela E. Lin,Grazia M.S. Mancini,Wendy S. Meschino,James D. Reggin,Anand Saggar,Tally Lerman-Sagie,Gã Khan Uyanik,Rosanna Weksberg,Birgit Zirn,Chandree L. Beaulieu,Jacek Majewski,Dennis E. Bulman,Mark O'Driscoll,Jay Shendure,John M. Graham,Kym M. Boycott,William B. Dobyns +39 more
TL;DR: Exome sequencing identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway, highlighting the central role of PI3K-AKT signaling in vascular, limb and brain development.
Journal ArticleDOI
Whole-genome sequencing of quartet families with autism spectrum disorder
Ryan K. C. Yuen,Bhooma Thiruvahindrapuram,Daniele Merico,Susan Walker,Kristiina Tammimies,Ny Hoang,Christina Chrysler,Thomas Nalpathamkalam,Giovanna Pellecchia,Yi Liu,Matthew J. Gazzellone,Lia D’Abate,Eric Deneault,Jennifer L. Howe,Richard S C Liu,Ann Thompson,Mehdi Zarrei,Mohammed Uddin,Christian R. Marshall,Robert H. Ring,Lonnie Zwaigenbaum,Peter N. Ray,Rosanna Weksberg,Melissa T. Carter,Bridget A. Fernandez,Wendy Roberts,Peter Szatmari,Stephen W. Scherer +27 more
TL;DR: By examining de novo and rare inherited single-nucleotide and structural variations in genes previously reported to be associated with ASD or other neurodevelopmental disorders, it is found that some of the affected siblings carried different ASD-relevant mutations.